Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference38 articles.
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3. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.;Carolyn;Genet. Med.,2012
4. High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.;Chen;Genet. Med.,2014
5. Tissue differences in fragile X mosaics: mosaicism in blood cells may differ greatly from skin.;Dobkin;Am. J. Med. Genet.,1996
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1. PATIENT WITH PRIMARY OVARIAN FAILURE DUE TO INTERMEDIATE PREMUTATION OF THE FMR1 GENE USING TRANSDERMAL TESTOSTERONE IN IVF TREATMENT, CASE REPORT AND LITERATURE REVIEW;Journal of IVF-Worldwide;2024-06-06
2. Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome;Expert Review of Molecular Diagnostics;2023-11-24
3. Mechanisms of Genome Instability in the Fragile X-Related Disorders;Genes;2021-10-17
4. On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability;Journal of Biological Chemistry;2020-03
5. Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families;Genes;2020-02-26
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